Evidence Details for SHANK3

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Basic Information Top

Gene Symbol:	SHANK3 ( DEL22q13.3,KIAA1650,PROSAP2,PSAP2,SPANK-2 )
Gene Full Name:	SH3 and multiple ankyrin repeat domains 3
Band:	22q13.33
Quick Links	Entrez ID:85358; OMIM: 606230; Uniprot ID:F2Z3L0_HUMAN; ENSEMBL ID: ENSG00000251322; HGNC ID: 14294
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>SHANK3|85358|nucleotide
ATGGACGGCCCCGGGGCCAGCGCCGTGGTCGTGCGCGTCGGCATCCCGGACCTGCAGCAGACGAAGTGCCTGCGCCTGGACCCGGCCGCGCCCGTGTGGGCCGCC
AAGCAGCGCGTGCTCTGCGCCCTCAACCACAGCCTCCAGGACGCGCTCAACTATGGGCTTTTCCAGCCGCCCTCCCGGGGCCGCGCCGGCAAGTTCCTGGATGAG
GAGCGGCTCCTGCAGGAGTACCCGCCCAACCTGGACACGCCCCTGCCCTACCTGGAGTTTCGATACAAGCGGCGAGTTTATGCCCAGAACCTCATCGATGATAAG
CAGTTTGCAAAGCTTCACACAAAGGCGAACCTGAAGAAGTTCATGGACTACGTCCAGCTGCATAGCACGGACAAGGTGGCACGCCTGTTGGACAAGGGGCTGGAC
CCCAACTTCCATGACCCTGACTCAGGAGAGTGCCCCCTGAGCCTCGCAGCCCAGCTGGACAACGCCACGGACCTGCTAAAGGTGCTGAAGAATGGTGGTGCCCAC
CTGGACTTCCGCACTCGCGATGGGCTCACTGCCGTGCACTGTGCCACACGCCAGCGGAATGCGGCAGCACTGACGACCCTGCTGGACCTGGGGGCTTCACCTGAC
TACAAGGACAGCCGCGGCTTGACACCCCTCTACCACAGCGCCCTGGGGGGTGGGGATGCCCTCTGCTGTGAGCTGCTTCTCCACGACCACGCTCAGCTGGGGATC
ACCGACGAGAATGGCTGGCAGGAGATCCACCAGGCCTGCCGCTTTGGGCACGTGCAGCATCTGGAGCACCTGCTGTTCTATGGGGCAGACATGGGGGCCCAGAAC
GCCTCGGGGAACACAGCCCTGCACATCTGTGCCCTCTACAACCAGGAGAGCTGTGCTCGTGTCCTGCTCTTCCGTGGAGCTAACAGGGATGTCCGCAACTACAAC
AGCCAGACAGCCTTCCAGGTGGCCATCATCGCAGGGAACTTTGAGCTTGCAGAGGTTATCAAGACCCACAAAGACTCGGATGTTGTACCATTCAGGGAAACCCCC
AGCTATGCGAAGCGGCGGCGACTGGCTGGCCCCAGTGGCTTGGCATCCCCTCGGCCTCTGCAGCGCTCAGCCAGCGATATCAACCTGAAGGGGGAGGCACAGCCA
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>SHANK3|85358|protein
MDGPGASAVVVRVGIPDLQQTKCLRLDPAAPVWAAKQRVLCALNHSLQDALNYGLFQPPSRGRAGKFLDEERLLQEYPPNLDTPLPYLEFRYKRRVYAQNLIDDK
QFAKLHTKANLKKFMDYVQLHSTDKVARLLDKGLDPNFHDPDSGECPLSLAAQLDNATDLLKVLKNGGAHLDFRTRDGLTAVHCATRQRNAAALTTLLDLGASPD
YKDSRGLTPLYHSALGGGDALCCELLLHDHAQLGITDENGWQEIHQACRFGHVQHLEHLLFYGADMGAQNASGNTALHICALYNQESCARVLLFRGANRDVRNYN
SQTAFQVAIIAGNFELAEVIKTHKDSDVVPFRETPSYAKRRRLAGPSGLASPRPLQRSASDINLKGEAQPAASPGPSLRSLPHQLLLQRLQEEKDRDRDADQESN
ISGPLAGRAGQSKISDPGPGPGGVGGAPLPPPGAPRSCIRIRARFPAPPAPPAPPPRGPKRKLYSAVPGRKFIAVKAHSPQGEGEIPLHRGEAVKVLSIGEGGFW
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

Evidences	Syndromic Gene	GWAS	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	Yes	1 (1)	2 (14)	0 (0)	2 (4)	0 (0)	2 (7)	0 (0)	0 (0)	3 (5)	62 (31)

Syndromic Autism Gene Top

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.

Inheritance	AD
OMIM	Chromosome 22q13.3 deletion syndrome (606232)
Description	22q13 deletion syndrome (Phelan-McDermid syndrome) is caused by deletions of SHANK3; ASD or autistic features are frequent. SHANK3 mutations have also been reported in individuals with ASD
Reference(s)	20186804; 17173049; 18615476; 19736351; 15286229; 17999366; 10735630;
Level	Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
MIXED/OTHERS
Connolly S, 2017_2	-	Illumina 1Mv1;Illumina 1Mv3 Duo; Illumina HumanOmni2.5 M	2591	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Prasad, 2000	-	FISH			autism	-	-	-	-	1	-	1
Goizet, 2000	-	FISH			autism	-	-	-	-	1	-	1
Wassink, 2001	USA	Chromosomal analysis of G-band			autism	-	-	-	-	278	-	278
Sebat, 2007	USA	aCGH			autism	165	118	47	99	195	196	391
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Zwaag, 2009	-	SNP microarray			autism	-	-	-	-	105	267	372
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Bremer, 2011	-	aCGH			ASD	-	-	-	-	223	-	223
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-
Chen, 2011	-	FISH, aCGH	-	-	autism	-	-	-	-	1	-	1
Sanders SJ, 2015	-	-	-	-	ASD	2591	-	-	-	-	-	-
Eriksson MA, 2015	Sweden	FISH?	-	-	autism	-	-	-	-	162	-	162
Brownstein CA, 2016	-	chromosomal microarray analysis			autism	-	-	-	-	1	-	1
C Yuen RK, 2017	-	WGS			ASD	-	-	-	-	1745	-	-

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 2

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
MIXED/OTHERS
Jonsson L, 2014_1	Sweden	the Kompetitive Allele Specific PCR (KASP) Genotyping System	6171	12319 (-)			autistic-like trait	- -	- -
Cochoy DM, 2015_1	Unknown	-	-	3 (-)			ASD	- -	- -

Case Control Based Association Studies: 2

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Koberstein JN, 2018_1	Unknown	Life Technologies	-	-	ASD	- 3.3 to 15.2 years	-	214 (-)	- 3.2 to 16.3 years	-
MIXED/OTHERS
Shao S, 2014_1	China	PCR			ASD	4.63 -	-	636 (12.26%)	61.18 -
Qiu S, 2018_1	China	PCR			-	- -	-	241 (19.09%)	- -

Large Scale Expression Studies Top

Reference	Source	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
De Rubeis S, 2014	2270	-	1702	Synaptic, transcriptional and chromatin genes disrupted in autism
O'Roak BJ, 2014	3486	-	59	Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Yuen RK, 2016	200	-	301	Genome-wide characteristics of de novo mutations in autism.
C Yuen RK, 2017	1625	-	237	Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Zhu W, 2018	1	-	2	Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
No matched NGS Other Studies!

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for SHANK3

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics